Linked Data
ClinVar Variation Id:
553745
ClinVar RCV Id:
RCV000669258
dbSNP Id:
rs1555111501
MyVariant Identifiers:
chr11:g.77214676_77214691del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.77214676_77214691del , CM000673.2:g.77214676_77214691del | GRCh38 |
| NC_000011.9:g.76925721_76925736del , CM000673.1:g.76925721_76925736del | GRCh37 |
| NC_000011.8:g.76603369_76603384del | NCBI36 |
| NG_009086.1:g.91412_91427del | |
| NG_009086.2:g.91431_91446del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409709.9:c.6628_6643del MANE Select | ENSP00000386331.3:p.Gly2210SerfsTer? | |
| ENST00000670577.1:c.4429_4444del | ||
| ENST00000409619.6:c.6481_6496del | ENSP00000386635.2:p.Gly2161SerfsTer? | |
| ENST00000409709.7:c.6628_6643del | ENSP00000386331.3:p.Gly2210SerfsTer? | |
| ENST00000458169.2:c.4054_4069del | ENSP00000417017.2:p.Gly1352SerfsTer? | |
| ENST00000458637.6:c.6508_6523del | ENSP00000392185.2:p.Gly2170SerfsTer? | |
| ENST00000481328.7:n.5178_5193del | ||
| ENST00000605744.1:n.2142_2157del | ||
| NM_000260.3:c.6628_6643del | NP_000251.3:p.Gly2210SerfsTer? | |
| NM_001127180.1:c.6508_6523del | NP_001120652.1:p.Gly2170SerfsTer? | |
| XM_005274012.2:c.6511_6526del | XP_005274069.1:p.Gly2171SerfsTer? | |
| XM_006718561.2:c.6514_6529del | XP_006718624.1:p.Gly2172SerfsTer? | |
| XR_949941.1:n.6922_6937del | ||
| XM_017017780.1:c.6718_6733del | XP_016873269.1:p.Gly2240SerfsTer? | |
| XM_017017784.1:c.6601_6616del | XP_016873273.1:p.Gly2201SerfsTer? | |
| XM_017017788.1:c.6604_6619del | XP_016873277.1:p.Gly2202SerfsTer? | |
| XR_001747885.1:n.6707_6722del | ||
| XR_001747887.1:n.6693_6708del | ||
| NM_000260.4:c.6628_6643del MANE Select | NP_000251.3:p.Gly2210SerfsTer? | |
| NM_001127180.2:c.6508_6523del | NP_001120652.1:p.Gly2170SerfsTer? | |
| NM_001369365.1:c.6481_6496del | NP_001356294.1:p.Gly2161SerfsTer? |